HYPERCHOLESTEROLEMIA, AUTOSOMAL RECESSIVE

Known as: FHCB2, FORMERLY, Autosomal Recessive Hypercholesterolemia, ARH2, FORMERLY 
An autosomal recessive condition caused by mutation(s) in the LDLRAP1 gene, encoding low density lipoprotein receptor adaptor protein 1. The… (More)
National Institutes of Health

Papers overview

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Highly Cited
2013
Highly Cited
2013
Endocannabinoids are released ‘on-demand’ on the basis of physiological need, and can be pharmacologically augmented by… (More)
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2013
2013
OBJECTIVE Autosomal recessive hypercholesterolemia is a rare inherited disorder, characterized by extremely high total and low… (More)
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Highly Cited
2012
Highly Cited
2012
Synchronizing rhythms of behaviour and metabolic processes is important for cardiovascular health and preventing metabolic… (More)
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Highly Cited
2006
Highly Cited
2006
Proprotein convertase subtilisin/kexin type 9 (PCSK9) is a member of the proteinase K subfamily of subtilases that reduces the… (More)
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2006
2006
Autosomal recessive hypercholesterolemia (ARH) is a rare disorder, due to complete loss of function of an adaptor protein (ARH… (More)
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Review
2004
Review
2004
Autosomal recessive hypercholesterolemia (ARH) presents with a clinical phenotype similar to that of classical homozygous… (More)
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2003
2003
Autosomal recessive hypercholesterolemia (ARH) is a genetic form of hypercholesterolemia that clinically resembles familial… (More)
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Highly Cited
2002
Highly Cited
2002
The low density lipoprotein (LDL) receptor plays a pivotal role in cholesterol metabolism. Inherited mutations that disturb the… (More)
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2002
2002
Mutations in the phosphotyrosine-binding domain protein ARH cause autosomal recessive hypercholesterolemia (ARH), an inherited… (More)
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Highly Cited
2001
Highly Cited
2001
Atherogenic low density lipoproteins are cleared from the circulation by hepatic low density lipoprotein receptors (LDLR). Two… (More)
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